Results 71 to 80 of about 25,377 (250)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Bile acid metabolism and signaling in human and animal health: A One Health perspective

iMetaOmics, EarlyView.
Bile acids maintain host homeostasis through enterohepatic circulation, microbial transformation, and bile acid receptor signaling, thereby regulating glucose and lipid metabolism, intestinal barrier integrity, and immunity. These effects support human disease intervention and health‐oriented animal production, reducing drug dependence and residue ...
Lei Li, Shuai Liu, Zhijun Cao, Yangchun Cao, Shengru Wu, Lu Deng, Junhu Yao, Jun Zhang   +7 more
wiley   +1 more source

Renal Disease in an Adult Patient with Type I Glycogen Storage Disease

Renal Failure, 1995
A 26-year-old Chinese male patient with type I glycogen storage disease presented with chronic renal disease, proteinuria, and urolithiasis. On renal biopsy, focal glomerular sclerosis, increased mesangial matrix and cellularity, interstitial fibrosis, tubular atrophy, and prominent arteriosclerosis were observed. Immunofluorescence microscopy revealed
P S, Lim, B, Kho
openaire   +2 more sources

Microbiome and aging: Trajectories of microbiome age across human ecosystems and their systemic effects

iMeta, EarlyView.
Microbiome age (MA) has emerged as an innovative biomarker of biological aging, reflecting host aging trajectories through dynamic alterations in microbial composition, function, and host–microbe interactions across multiple body ecosystems. Diverse computational strategies—including traditional machine learning, deep learning, and multi‐omics ...
Zhexin Ni, Jiaojiao Xie, Zhichun Zhang, Keming Zhang, Jie Ding, Mingyang Chang, Ying Su, Yunan Zhang, Mingfei Yao, Chengyuan Wang, Yan Yan, Wenjie Fang, Hainv Gao, Xuecong Tian, Yangshuo Li, Xinlin Zhu, Wen Zhang, Wanqing Liao, Gaoyuan Xu, Guojing Chen, Xiaoyi Lv, Chaoqin Yu, Weihua Pan, Vadim Molodtsov, Lanjuan Li, Yue Gao, Wei Zhou   +26 more
wiley   +1 more source

McArdle disease does not affect skeletal muscle fibre type profiles in humans

Biology Open, 2014
Patients suffering from glycogen storage disease V (McArdle disease) were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre ...
Tertius Abraham Kohn, Timothy David Noakes, Dale Elizabeth Rae, Juan Carlos Rubio, Alfredo Santalla, Gisela Nogales-Gadea, Tomas Pinós, Miguel A. Martín, Joaquin Arenas, Alejandro Lucia   +9 more
doaj   +1 more source

The plant microbiome: From ecological foundations to precision microbial engineering for sustainable agriculture

iMeta, EarlyView.
From ecological principles to precision engineering of plant microbiomes for sustainable agriculture. The plant holobiont integrates diverse microbial niches (including rhizosphere, endosphere, phyllosphere, seed, and aerial‐root mucilagesphere), host genetics (namely M genes), and host metabolites. Furthermore, molecular dialogues, including rhizobial
Mi Wei, Tengxiang Lian, Liying Chen, Lanxiang Wang, Junjie Ye, Xiaofang Yao, Shilong Duan, Ziyu Lu, Jinji Tu, Hongfu Li, Xin‐Yue Xu, Jie Zhou, Junliang He, Feiying Zhu, Paola Bonfante, Lam‐Son Phan Tran, Zhiqiang Pang, Xin Zhou, Zhihui Xu, Lin Zhang, Mengcen Wang, Xiaolin Wang, Chang‐Fu Tian, Yong‐Xin Liu, Kai Sun, Ertao Wang, Xianan Xie   +26 more
wiley   +1 more source

X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males

Pediatrics and Neonatology, 2009
X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase
Szu-Ta Chen, Huey-Ling Chen, Yen-Hsuan Ni, Yin-Hsiu Chien, Yung-Ming Jeng, Mei-Hwei Chang, Wuh-Liang Hwu   +6 more
doaj   +1 more source

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report. [PDF]

Cureus, 2023
Elouali A, N'joumi C, Bennani A, Rkain M, Babakhouya A.   +4 more
europepmc   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source